A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5869231



Internal ID22644166
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:103789381..103796631hg38UCSC Ensembl
chr2:104405839..104413089hg19UCSC Ensembl
Cytoband2q12.1
Allele length
AssemblyAllele length
hg387251
hg197251
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17405954
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5869231
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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